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Rapid detection of Chinese G gamma+(A gamma delta beta)zero-thalassemia by polymerase chain reaction.

Abstract
The Chinese G gamma+(A gamma delta beta)zero-thalassemia is caused by a deletion of more than 80 kilobases. It has a beta(+)-thalassemia phenotype and should be differentiated from other mutations causing beta-thalassemia. Using polymerase chain reaction with three oligonucleotide primers bridging the breakpoints, the deletion can be detected easily. The method is useful in the genetic counseling and prenatal diagnosis of the at-risk families.
AuthorsT M Ko, L H Tseng, F J Hsieh, S M Chuang, T Y Lee
JournalActa haematologica (Acta Haematol) Vol. 89 Issue 2 Pg. 80-1 ( 1993) ISSN: 0001-5792 [Print] Switzerland
PMID8503248 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Oligonucleotide Probes
  • Globins
Topics
  • Alleles
  • Base Sequence
  • Chromosome Deletion
  • Genetic Carrier Screening
  • Globins (genetics)
  • Humans
  • Molecular Sequence Data
  • Oligonucleotide Probes
  • Polymerase Chain Reaction (methods)
  • Taiwan
  • beta-Thalassemia (diagnosis, ethnology, genetics)

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